Hemophilia is a blood clotting disorder that is usually inherited. Patients either lack important proteins that allow the blood to clot, or these so-called coagulation factors are defective. Therefore, hemophiliacs (“bleeders”) tend to bleed and get “bruise” (hematomas) easily. The hemophilia cannot yet be cured. Thanks to modern therapies, however, many of those affected lead a largely normal life. Read everything about the course, symptoms and treatment of hemophilia here.
ICD codes for this disease: D66 | D67 | D68
- Course and prognosis: Not curable; Treatment with drugs that replace the missing clotting factor
- Symptoms: Increased tendency to bleed, which can easily lead to bleeding and bruising (hematomas).
- Treatment: replacement of the missing coagulation factor; in certain cases, other drugs such as desmopressin
- Cause and risk factors: Genetic deficiency or defect in certain proteins that enable blood clotting
- Diagnostics: Measurement of various blood parameters (aPTT, Quick value, plasma thrombin time , bleeding time, number of blood platelets), determination of the activity of coagulation factors
- Prevention: Not possible due to genetic cause; Medications prevent excessive bleeding.
What is hemophilia?
Blood clotting is disturbed in people with hemophilia. Those affected (hemophiliacs, “bleeders”) lack certain proteins in the blood that are necessary for the blood to clot. These so-called clotting factors ensure that in the event of an injury, blood clots form and seal the wound. If these coagulation factors are not formed in sufficient quantities or in sufficient quality, blood coagulation is disturbed. Therefore, hemophiliac patients tend to have excessively long or profuse bleeding.
The medical term for a blood clotting disorder with an increased tendency to bleed is “haemorrhagic diathesis“. The general term for a clotting disorder is “coagulopathy”.
Types of hemophilia
There are different clotting factors. Depending on which coagulation factor is affected in hemophilia, doctors differentiate between different forms of the disease. The most important are hemophilia A and hemophilia B:
- In hemophilia A there are problems with coagulation factor VIII (antihemophilic globulin A): either the body does not produce it in sufficient quantities or it is defective. About 85 percent of all hemophiliacs suffer from hemophilia A. Almost all are men.
- People with hemophilia B lack coagulation factor IX (antihemophilic globulin B or Christmas factor). Here, too, the patients are mostly male.
In addition to the main forms of hemophilia A and B, there are other hereditary coagulation disorders. One of them is von Willebrand-Jürgens syndrome, also called von Willebrand syndrome (vWS). The focus here is on the von Willebrand factor: this coagulation factor is either present in too small a quantity or is defective. As with hemophilia A and B, this leads to an increased tendency to bleed. Unlike the two main forms of hemophilia, this bleeding disorder affects men and women equally.
In rare cases, other coagulation disorders occur that are based on a lack of coagulation factors. They also show an increased tendency to bleed. These include:
- Hemophilia C: lack of functional Factor XI
- Parahemophilia: lack of functional factor V
- Hypoproconvertinaemia: lack of functional Factor VII
- Stuart-Prower Factor Deficiency: Lack of functional Factor X
- Hageman syndrome: lack of functional factor XII
- Fibrinase Deficiency: Lack of functional Factor XIII.
How does hemophilia A progress?
Most people with hemophilia have hemophilia A. The disease is present from birth and has a chronic course. Haemophilia – also in other forms – is not yet curable. However, there are therapies that compensate for the effects of hemophilia or the lack of its own coagulation factors. Thanks to treatment options, people with hemophilia now generally have the same life expectancy as healthy people.
If left untreated, injuries can cause severe bleeding. Although it is very rare for people with hemophilia to bleed to death from an injury, over time the excessive bleeding damages various organs.
Bleeding into the joints often occurs repeatedly, particularly in severe hemophilia. As a result, there is a risk that the affected joint will deform, wear out prematurely (arthrosis) and gradually stiffen. People with advanced arthrosis are no longer able to move their arms and legs sufficiently and are dependent on a wheelchair.
How hemophilia progresses depends not only on the therapy but also on how severe the disease is in those affected.
Hemophilia: degrees of severity
In general, the following applies: the fewer functional coagulation factors are present, the more pronounced the clinical picture. The severity of the hemophilia depends on how much the activity of the clotting factors is reduced compared to their function in healthy people. Doctors distinguish between three degrees of severity of hemophilia (A and B):
Mild hemophilia: Factor activity is 6 to 45 percent of normal activity in a healthy person. Those affected often do not notice much about their illness. For this reason, hemophilia is often not discovered until adolescence or adulthood, when operations or major injuries bleed longer than expected.
Moderate hemophilia: Factor activity is one to five percent of normal activity. The symptoms usually become apparent in the first few years of life with unusually long-lasting bleeding and frequent bruising. As with mild hemophilia, bleeding is usually the result of injury or surgery. Spontaneous bleeding is rare.
Severe hemophilia: Factor activity is less than 1 percent of normal activity. The slightest injury or impact causes severe bleeding under the skin (bruising). Internal bleeding is also more common, for example painful bleeding into large joints such as knees or elbows. Typically, many bleeds have no identifiable cause. Doctors then speak of spontaneous bleeding.
What are the symptoms?
The symptoms of hemophilia A (factor VIII deficiency) and hemophilia B (factor IX deficiency) are the same – although different coagulation factors are affected.
The disease becomes apparent in most children as early as childhood, when bruising occurs more frequently. In addition to an increased tendency to bleed and bruises on the skin, painful joints and restricted movement are typical symptoms of hemophilia. This is especially true if the bleeding disorder is severe or not treated.
Another danger associated with hemophilia is bleeding into the muscles: they damage the muscle tissue and, in severe cases, lead to muscle weakness.
In principle, it is possible for internal bleeding in hemophilia to occur in any organ area. Bleeding in the brain is rare but dangerous : it impairs the ability to think and concentration, for example. Severe cerebral hemorrhages can even be life-threatening!
Abdominal bleeding can also be life-threatening in extreme cases. Heavy bleeding in the mouth and throat impairs the airways.
People with von Willebrand-Jürgens syndrome also have an increased tendency to bleed. Typical symptoms of this form of hemophilia are bleeding gums, nosebleeds or prolonged bleeding after surgery, for example after tooth extraction. This form of hemophilia also often leads to excessively long or heavy menstrual bleeding in women.
How is hemophilia treated?
Hemophilia therapy depends on the type and severity of the bleeding disorder. The doctor treating you will create a suitable therapy plan for each patient.
Treatment of hemophilia A and B
Today, so-called factor concentrates are available for the treatment of hemophilia. These are concentrates of blood coagulation factors VIII (for hemophilia A) or IX (for hemophilia B) obtained from blood plasma or genetically engineered. They must be injected into a vein. Many sufferers learn to inject themselves with the factor concentrate. This gives them a lot of independence despite the illness.
In the case of mild and moderate haemophilia, the administration of factor concentrate is only necessary if necessary (on – demand treatment): the anticoagulant is administered, for example, in the event of heavy bleeding or before a planned operation. Minor injuries such as abrasions do not need to be treated with factor concentrate. The bleeding can usually be stopped by applying light pressure to the bleeding area.
People with severe hemophilia , on the other hand, have to inject the drug regularly (long-term treatment). How often this happens depends, among other things, on the preparation in question, the activity of the patient and the individual bleeding tendency.
Some people form antibodies (inhibitors) against the coagulation factors in the factor concentrate. This so-called inhibitor hemophilia is significantly more common in people with hemophilia A than in people with hemophilia B. The inhibitors inactivate the added coagulation factor. The therapy is then not as effective as desired.
Von Willebrand-Jürgens Syndrome (VWS)
There are different types of von Willebrand-Jürgens syndrome, which are treated differently: In type 1, the active ingredient desmopressin is given as needed, i.e. before an operation or in the event of acute bleeding. It stimulates the release of stored coagulation factors.
Desmopressin is also used in type 2. However, the drug does not always work here. Then the doctor prescribes a factor concentrate (with von Willebrand factor) instead.
Patients with VWS type 3 are always treated with a factor concentrate.
What causes hemophilia?
Hemophilia is a congenital genetic disease that is mostly inherited. More rarely, it occurs as a result of a spontaneous gene change (spontaneous mutation).
In hemophiliacs, the genetic information required to produce a functional clotting factor is defective. The wrong blueprint means that the coagulation factor in question – factor VIII in hemophilia A and factor IX in hemophilia B – is not produced in sufficient, functional amounts. This disrupts blood clotting: wounds do not close as quickly, so bleeding lasts an unusually long time.
Hemophilia A and B: Heredity
The blueprints (genes) for all parts of the body are located on the chromosomes. There are 46 chromosomes in the cell nucleus of every cell in the body, including two sex chromosomes, which, among other things, determine gender. Females have two X sex chromosomes (XX): one X chromosome was inherited from the mother and one from the father. Males, on the other hand, have a Y chromosome inherited from their father and an X chromosome (XY) inherited from their mother.
The genes for the coagulation factors are on the X chromosome. In women who have two X chromosomes, if one of them contains an incorrect blueprint for a clotting factor, it is usually possible for the other X chromosome to compensate for this. They are therefore largely symptom-free throughout their lives.
If a woman with a defective X chromosome gives birth to a child, she passes on one of the two X chromosomes to the offspring. There is a 50 percent chance that this is the specimen with the faulty blueprint. By passing on the genetic defect, the mother becomes the carrier of hemophilia. If it is a son, he will be born a bleeder. A daughter, on the other hand, usually becomes a potential carrier in turn.
Von Willebrand-Jürgens Syndrome
In the case of von Willebrand-Jürgens syndrome, the blueprint for the von Willebrand factor (vWF) shows a mutation: the coagulation factor is either insufficient or defective. The gene mutation occurs in both men and women. However, von Willebrand-Jürgens syndrome is not always genetic, but is acquired in some sufferers over the course of their lives, for example as a result of autoimmune diseases.
How is hemophilia diagnosed?
If someone has frequent spontaneous bleeding or bruises very easily, this is an indication of hemophilia. This suspicion is particularly obvious if the hemophilia is known in the family tree. In order to clarify the suspicion of haemophilia, the family doctor is the first point of contact:
The doctor will first take the patient’s medical history (anamnesis) in a conversation : He will have the symptoms described in detail, ask about any underlying diseases and whether there are known cases of hemophilia in the family.
Laboratory tests are particularly important for clarifying a possible hemophilia . The doctor takes a blood sample from the patient to have it examined in the laboratory for various parameters:
- In hemophilia, the so-called aPTT (activated partial thromboplastin time) is prolonged compared to healthy people.
- On the other hand, the so-called Quick value (thromboplastin time, PT) and the plasma thrombin time (PT) are generally unremarkable; only in severe hemophilia are they prolonged.
- The number of platelets (thrombocytes) and the so-called bleeding time are normal in hemophilia A and B. In von Willebrand-Jürgens syndrome, on the other hand, the bleeding time is prolonged. Bleeding time is the amount of time it takes for bleeding to stop.
The activity of the coagulation factors (VIII, IX) is analyzed to diagnose hemophilia A or B without a doubt. A specialist in hematology or a specialized medical center (hemophilia center) is responsible for this.
Hemophilia: test for newborns and unborn children
If hemophilia has already run in a family, coagulation is usually checked in male newborns immediately after birth. In this way, a bleeding disorder can be detected at an early stage. Texting is also possible during pregnancy to check if the baby has hemophilia.
If a woman suspects that she is genetically predisposed to hemophilia and is therefore a potential carrier, this can be clarified with a genetic test.
How can hemophilia be prevented?
In the vast majority of cases, hemophilia is genetic. Therefore, it is not possible to prevent it. The factor supplements that people with severe hemophilia inject keep excessive bleeding at bay. In many cases, this helps to prevent the consequences of bleeding such as joint damage. In addition, doctors recommend that people with hemophilia avoid activities or sports with an increased risk of injury if possible.